HelmholtzZentrum munich
WCMC

Connecting genetic risk to disease endpoints through the human blood plasma proteome

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Locus annotations

Locus 85

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
CD109 cis Discovery rs10455097 6:74,493,432 A/C 0.49 978 0.603 0.040 3.2×10-46 1.150 1.1×10-41 5×10-32
CD109 cis Replication rs10455097 6:74,493,432 A/C 0.45 337 0.435 0.053 3.4×10-15 1.170 8.6×10-13 4×10-14

 

Regional association plots

 

Boxplots and histograms for top associations

CD109 antigen (CD109)

inverse-normalized probe levels log2 transformed probe levels raw probe levels
Discovery study
Replication study

CD109 antigen (CD109)

Target (abbrv.) CD109
Target (full name) CD109 antigen
Somalogic ID (Sequence ID) SL008773 (3290-50_2)
Entrez Gene Symbol CD109
UniProt ID Q6YHK3
UniProt Comment
  • Modulates negatively TGFB1 signaling in keratinocytes.

All locus annotations are based on the sentinel SNP (rs10455097) and 60 proxy variant(s) that is/are in linkage disequilibrium r2 ≥ 0.8. Linkage disequilibrium is based on data from the 1000 Genomes Project, phase 3 version 5, European population and was retrieved using SNiPA's Block Annotation feature.
Download the detailed results of SNiPA's block annotation (PDF)

Linked genes

Genes hit or close-by
Potentially regulated genes
eQTL genes

 

Results from other genome-wide association studies

Trait P Study Source
Q6YHK3 protein abundance levels 8.6×10-10 22595970 (PMID) GRASP2 pQTL
Calcium levels 3×10-6 24068962 (PMID) GWAS Catalog via SNiPA
Differential exon level expression of CD109 [probe 2913712] in brain cortex 8.7×10-6 19222302 (PMID) GRASP2 eQTL
Serum calcium 9.9×10-6 20661308 (PMID) GRASP2 nonQTL